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Functional examination of candidate ENGRAILED 2 disease alleles by mouse transgenesis

State/Province Full: 
New Jersey
United States

Over the past several years Dr. Millonig and his colleagues at UM.D.NJ have narrowed in on the ENGRAILED 2 (EN2) gene in humans as a strong candidate gene for an autism spectrum disorder (ASD). They have found two DNA variants which are inherited more frequently in individuals with ASD as compared to their non-affected siblings. The next phase of Dr. Millonig's research will focus on whether or not these specific genetic mutations lead to functional changes in the EN2 protein, and how this protein is expressed in the brain. Pre-doctoral fellow Silky Kamdar will work with Dr. Millonig to create two lines of mutant mice: one that expresses the suspected disease form of En2 and one that expresses the form of En2 not associated with ASD. Ms. Kamdar will examine these mice throughout development to determine if there is a difference in En2 protein between these mouse strains and when and where during development these differences can be detected. What this means for people with autism: This study will provide critical details about the role of the En2 gene in ASD – such as brain regions and cell types which are particularly susceptible to this genetic mutation. Findings from this research may lead to more targeted behavioral and pharmaceutical therapies.